By Chris Duane, Casey’s mom…
So often I want to write about how it feels to take on the project of finding a treatment and ultimately a cure for my daughter’s rare form of muscular dystrophy. But I also think that you may wonder about our goals; Where are we going? What is your donation money being used for? Why is it important to donate to our cause?
Hopefully, this blog post will be a start at answering some of those questions.
You may well ask, “What makes her disease subtype rare?” In the medical research field, diseases that have less than 2,000 cases (in the United States) are considered ‘ultra-rare’.
You may also ask, how exactly does that help or hinder our ultimate goals? I have come to learn that when the US has an insufficient population of a certain disease, finding funding for it can be super-challenging.
But I’ve also learned this year that the FDA doesn’t really like groups of less than, say, 2,000, to be studied because the impact of the research, even if remarkably successful, won’t help enough people to warrant the money and the work. (I wonder if they look at the cost benefit analysis of getting my daughter healthy as opposed to the outrageous cost it will take to keep her alive for as long as possible? And that the work may well yield information to help another rare disease?)
As you can imagine, belonging to a group that is deemed ‘insignificant’ doesn’t sit well with many people with rare diseases.
So at this point in this post, I would like to tell you about an organization I’m learning from that fosters relationships with legislators who can really make an impact in the rare disease world. It’s called The National Organization for Rare Diseases (pretty creative right?) https://rarediseases.org/rare-diseases/myopathy-myofibrillar/ This link will take you the page that has a LOT of medical information on it. But if you scroll toward the bottom, you’ll see a bit of information about HMERF (Hereditary Myopathy with Early Respiratory Failure), Casey’s subtype.
Also, another group, Every Life Foundation, sponsors Rare Disease Week on Capitol Hill . Casey’s Cure plans to attend these ‘meetings on the Hill’ in February, 2022, in order to put forth our support behind the HEART BILL, HR 1184. ( We attended virtually in 2021.)
This bill has a section in that could make a HUGE difference in the research opportunities for ultra-rare diseases like Casey’s. The text of this bill that is relevant to Casey’s Cure is the section that addresses examining and including research from the European Union. This is important because ultimately it will allow aggregation of small pockets of research that, when aggregated, would create a group large enough that would qualify for FDA studies/research/grants, etc. ( https://www.congress.gov/bill/117th-congress/house-bill/1184/text#H1C190F0C28FE4AC1AAD4AC6C37D71649 )
I intend to do a better job of keeping those interested abreast of our work throughout the coming months. Our hill is a steep one, but as long as there is hope, there is work to be done.
So very gratefully yours,
Chris
